Canlyniadau Chwilio - Josseline Kaplan

Mireinio'r Canlyniadau
  1. 1
    Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France

    Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France gan Evelyne Colomb, Josseline Kaplan, Henri‐Jean Garchon

    Cyhoeddwyd 2003
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  2. 2
    Illegitimate transcription: transcription of any gene in any cell type.

    Illegitimate transcription: transcription of any gene in any cell type. gan Jamel Chelly, Jean‐Paul Concordet, Josseline Kaplan, A. J. Kahn

    Cyhoeddwyd 1989
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  3. 3
    Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm

    Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm gan Guy Lenaers, Cléis Beaulieu, Majida Charif, S. Gerber, Josseline Kaplan, Jean‐Michel Rozet

    Cyhoeddwyd 2023
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  4. 4
    Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.

    Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. gan Dominique Bonneau, Frank R. Raymond, C Kremer, J M Klossek, Josseline Kaplan, F Patte

    Cyhoeddwyd 1993
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  5. 5
    International Committee for Standardization in Haematology: Recommended Screening Test for Glucose‐6‐Phosphate Dehydrogenase (G‐6‐PD) Deficiency

    International Committee for Standardization in Haematology: Recommended Screening Test for Glucose‐6‐Phosphate Dehydrogenase (G‐6‐PD) Deficiency gan Ernest Beutler, Karl G. Blume, Josseline Kaplan, G. W. Löhr, Bracha Ramot, William N. Valentine

    Cyhoeddwyd 1979
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  6. 6
    International Committee for Standardization in Haematology: Recommended Methods for Red‐Cell Enzyme Analysis*

    International Committee for Standardization in Haematology: Recommended Methods for Red‐Cell Enzyme Analysis* gan Ernest Beutler, Karl G. Blume, Josseline Kaplan, G. W. Löhr, Bracha Ramot, William N. Valentine

    Cyhoeddwyd 1977
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  7. 7
    A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21

    A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21 gan Hassan Chaı̈b, Josseline Kaplan, S. Gerber, C. Vincent, Hammadi Ayadi, Rima Slim, Susanne Arnold, Jean Weissenbach, Christine Petit

    Cyhoeddwyd 1997
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  8. 8
    A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy

    A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy gan Isabelle Perrault, Jean‐Michel Rozet, S. Gerber, Rosemary E. Kelsell, Eric H. Souied, Annick Cabot, David M. Hunt, Arnold Münnich, Josseline Kaplan

    Cyhoeddwyd 1998
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  9. 9
    Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

    Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies gan Jean‐Michel Rozet, S. Gerber, Eric H. Souied, Isabelle Perrault, Sophie Châtelin, Imad Ghazi, Corinne Leowski, Jean‐Louis Dufier, Arnold Munnich, Josseline Kaplan

    Cyhoeddwyd 1998
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  10. 10
    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis gan Isabelle Perrault, Sylvain Hanein, S. Gerber, Fabienne Barbet, Dominique Ducroq, Hélène Dollfus, Christian Hamel, Jean‐Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean‐Michel Rozet

    Cyhoeddwyd 2004
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  11. 11
    Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues.

    Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues. gan Jean‐Philippe Hugnot, Hélène Gilgenkrantz, N Vincent, Philippe Chafey, Glenn E. Morris, Anthony P. Monaco, Yoheved Berwald‐Netter, Annette Koulakoff, Josseline Kaplan, A Kahn

    Cyhoeddwyd 1992
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  12. 12
    Spectrum of retGC1 mutations in Leber's congenital amaurosis

    Spectrum of retGC1 mutations in Leber's congenital amaurosis gan Isabelle Perrault, Jean‐Michel Rozet, S. Gerber, Imad Ghazi, Dominique Ducroq, Eric H. Souied, Corinne Leowski, Michèle Bonnemaison, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan

    Cyhoeddwyd 2000
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  13. 13
    Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

    Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype gan Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, S. Gerber, Jean‐Louis Dufier, Olivier Roche, Sabine Defoort‐Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    Cyhoeddwyd 2007
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  14. 14
    Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis

    Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis gan Isabelle Perrault, Jean‐Michel Rozet, Imad Ghazi, Corinne Leowski, Michèle Bonnemaison, S. Gerber, Dominique Ducroq, Annick Cabot, Eric H. Souied, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan

    Cyhoeddwyd 1999
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  15. 15
    AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

    AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation gan Xavier Gérard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlène Rio, Arnold Münnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean‐Michel Rozet

    Cyhoeddwyd 2012
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  16. 16
    Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy

    Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy gan Rosemary E. Kelsell, Kevin Gregory-Evans, Annette Payne, Isabelle Perrault, Josseline Kaplan, Ruey‐Bing Yang, David L. Garbers, Alan C. Bird, Anthony T. Moore, David M. Hunt

    Cyhoeddwyd 1998
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    Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

    Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis gan S. Gerber, Isabelle Perrault, Sylvain Hanein, Fabienne Barbet, Dominique Ducroq, Imad Ghazi, Dominique Martin–Coignard, Corinne Leowski, Tessa Homfray, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    Cyhoeddwyd 2001
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  18. 18
    rs5888 Variant of SCARB1 Gene Is a Possible Susceptibility Factor for Age-Related Macular Degeneration

    rs5888 Variant of SCARB1 Gene Is a Possible Susceptibility Factor for Age-Related Macular Degeneration gan Jennyfer Zerbib, Johanna M. Seddon, Florence Richard, Robyn Reynolds, Nicolas Leveziel, Pascale Benlian, Patrick Borel, Josué Feingold, Arnold Münnich, G. Soubrane, Josseline Kaplan, Jean‐Michel Rozet, Eric H. Souied

    Cyhoeddwyd 2009
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  19. 19
    Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

    Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling gan Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, Elena Zinovieva, Morgane Stum, Nadine Gigarel, Hélène Dollfus, Christian Hamel, Annick Toutain, Jean‐Louis Dufier, Olivier Roche, Arnold Münnich, Jean‐Paul Bonnefont, Josseline Kaplan, Jean‐Michel Rozet

    Cyhoeddwyd 2006
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    Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease

    Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease gan Melanie M. Sohocki, Isabelle Perrault, Bart P. Leroy, Annette Payne, Sharola Dharmaraj, Shomi S. Bhattacharya, Josseline Kaplan, Irene H. Maumenee, Robert K. Koenekoop, Françoise Meire, David G. Birch, John R. Heckenlively, Stephen P. Daiger

    Cyhoeddwyd 2000
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